An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
J. Clin. Invest. Michael Niedermaier, et al. 115:900 doi:10.1172/JCI23675 [Go to this article.]

Figure 4
The Dsh/+ limb phenotype. (A) Alizarin red–stained skeletal preparations of 4-week-old WT and Dsh/+ forelimb digits. MC, metacarpals. Digits I–V are shown. In Dsh/+ mice, the P1 and P2 elements are fused (P1/2, arrows) and severely reduced in size. In digit IV, the metacarpo-phalangeal joint is also fused. MC, metacarpals. (B) Hindlimb of WT and Dsh/+ adult mouse showing severe reduction in digit length. (C) Alcian blue staining of E15.5 WT and Dsh/+ limbs. Note lack of the middle phalanx anlage in all digits and persistent staining between the developing metacarpal and P1, indicating delayed or absent joint formation (arrow). (D) H&:E staining of E14.5 WT and Dsh/+ digits. WT shows the beginning of joint formation (arrow). In contrast, Dsh/+ shows lack of joint interzone formation and undifferentiated chondrocytes in the region of prospective phalanges (arrow). (E) BrdU staining of E14.5 WT and Dsh/+ autopod (top) and digits (bottom) showing reduced proliferation in the region of joint formation (arrows). (F) TUNEL staining showing lack of apoptosis in joint interzones (arrow). Magnification, ×18 (A), ×7 (B), ×40 (C), ×50 (E), ×100 (D and F).